The Diagnosis Moment

If you have heard GSF board member, Stephanie Meredith, share her research on the experiences of patients and families who have received a prenatal or postnatal diagnosis of Down syndrome, you will be familiar with the term “flashbulb memory”.  The term flashbulb memory was introduced to describe memories of emotionally charged, traumatic or surprising events that people may recall with remarkable clarity for many years.  Many people recall receiving a pre or postnatal diagnosis of a genetic condition as a flashbulb memory, and unfortunately, many people report traumatic or negative experiences when receiving a diagnosis.  

And recent research highlights the fact that these flashbulb memories don’t just occur when we might technically consider a diagnosis to be made, in follow-up to a diagnostic test. As more and more prenatal screening is done, we need to consider the diagnosis moment as occurring at the first time a family hears about the possibility of a genetic diagnosis in their pregnancy or for their baby.  

We also know that the effects of the way a diagnosis is delivered can have an impact on how patients trust and interact with the medical system moving forward.  

Knowing that the memory of the communication of a screening or diagnostic test result can be carried with a family through a lifetime, it is so crucial that we do our best as healthcare providers to deliver this information in a sensitive manner. And that we provide context and up-to-date information to help support families with the information that they need at that moment.

Recently Stephanie Meredith and colleagues published the largest study to date documenting experiences of receiving a prenatal diagnosis of Down syndrome. The findings suggest that provider bias significantly affects how and what information is provided to families. Key findings:

  • 61.3% of obstetric providers delivered the diagnosis as bad news or said, “I’m sorry.” Researchers used this response as a measure for implicit bias.
  • Obstetric providers were most likely to discuss medical issues (64%) and reproductive options (76%), and less than 40% discussed supports and services and life outcomes.
  • Clinicians who demonstrated implicit bias were significantly less likely than their counterparts to provide more comprehensive prenatal care, information about life outcomes, information about Down syndrome advocacy organizations, available supports and services, and condition-specific resources. 
  • 51% of unbiased obstetric providers gave patients accurate, up-to-date, and balanced resources about Down syndrome at the moment of diagnosis in language [they] could understand while only 17% of biased clinicians did so.
  • Parents described both implicit and explicit bias when receiving prenatal screening results in the past 7 years. They described being told things like “[you] could still miscarry, that nature could still correct its mistake” and being asked questions like “how does it make you feel to know that you will die and leave your baby dependent on the state? How do you feel about your child not having a good quality of life?” 

At the recent National Society of Genetic Counselors Conference, Stephanie led a presentation and panel discussion alongside Angela Trepanier, Improving the Diagnosis Experience: What we can learn from families of children with Down syndrome. During this session patients shared their personal diagnosis stories and shared their perspective on what really mattered to them at that moment of diagnosis. They asked genetic counselors to consider if our impact matches our intent when communicating a diagnosis.  Are we framing these communications as “bad news”?   Moms shared the feelings of guilt and shame that are put upon them regarding their age. And also the lack of attention to the real life questions they had (e.g. “Am I going to be able to breastfeed my daughter? Hold her in a carrier? Those were the questions that really mattered to me.”)

As another Down Syndrome Awareness month comes to a close, we encourage all of our genetic counselors and OB care providers to think deeply about what families are telling us about their experiences. We can and must do better.  

One concrete thing you can do is to sign up for the course, Understanding Disability and Best Practices for Communicating a Diagnosis. It is freely available online and provides CEUs for genetic counselors.  In this course you will have an opportunity to:

  • Examine how the basic history of disability rights has impacted life outcomes for people with disabilities and the importance of recognizing current supports, services, and life outcomes when communicating about prenatal screening and testing for genetic conditions.
  • Critically assess policies and practices that impact the provision of genetic information at the moment of diagnosis of a genetic condition.
  • Define best practices for discussing prenatal screening and testing and delivering a prenatal or postnatal diagnosis of Down syndrome with accuracy, sensitivity, and cultural awareness.

At Genetic Support Foundation, we work to support patients and families to understand the implications of genetic testing and information on their health and lives. We are committed to bringing perspectives of those with lived experiences into the genetic counseling we provide and we are thankful for this research that highlights patient experience and shows us what we can do better.